ArticleBlood2005
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred.
Article in Blood, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review.International medical case reports journal · 2025Article
- Aberrant splicing contributes to severe α-spectrin-linked congenital hemolytic anemia.The Journal of clinical investigation · 2019Article
- RNA splicing during terminal erythropoiesis.Current opinion in hematology · 2017Review
- Novel exon 2 α spectrin mutation and intragenic crossover: three morphological phenotypes associated with four distinct α spectrin defects.Haematologica · 2013Article
- Abnormalities of the erythrocyte membrane.Pediatric clinics of North America · 2013Review
- Spectrin Tunis (Sp alpha (I/78)) in a Korean family with hereditary elliptocytosis.Annals of laboratory medicine · 2013Article
- Erythrocyte tropomodulin isoforms with and without the N-terminal actin-binding domain.The Journal of biological chemistry · 2010Article
- Article
- Article
- Phylogenetically widespread alternative splicing at unusual GYNGYN donors.Genome biology · 2006Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia due to abnormalities of the red blood cell (RBC) membrane skeleton. In the original HPP kindred, there is compound heterozygosity for an allele encoding a structural variant of alpha-spectrin (L207P) and an alpha-spectrin allele associated with a defect in alpha-spectrin production. To identify the molecular defect in the production-defective allele, reticulocyte alpha-spectrin cDNA from one of the original HPP patients was analyzed. Transcripts from the production-defective, non-L207P allele demonstrated a pattern of abnormal splicing between exons 22 and 23, resulting in insertion of intronic fragments with an in-frame premature termination codon. A G to A substitution at position +5 of the donor consensus splice site of IVS 22 was identified in the inserts. Following gene transfer into tissue culture cells, there was complete absence of normally spliced alpha-spectrin gene transcripts derived from a minigene containing the IVS 22 +5 mutation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.